Introduction: Five to 10% of breast cancers are caused by inherited mutations of the BRCA1/2 genes. Knowledge of inherited risk for cancer has potential for psychosocial consequences. The purpose of this review is to determine the survivorship concerns of women with mutations of BRCA1/2; with and without a diagnosis of cancer.
Methods: The search strategy included a search of CINAHL, PsycINFO, Medline, Pubmed, and Cochrane databases to identify research reports with specific aims of determining physical, psychosocial or spiritual outcomes of genetic testing for breast and ovarian cancer syndrome in adults at high risk for BRCA1/2 mutations. The identified studies were analyzed by design, sampling, and outcome measures. They were categorized by domain and main findings by domain are summarized.
Results: One systematic review, ten qualitative and 27 quantitative studies met the inclusion criteria. Four theoretical frameworks were identified.
Discussion/conclusions: Survivorship concerns were multidimensional and included issues related to risk reduction procedures, psychological and emotional impacts, and impact on family and social relationships. Many adults experience temporary distress after receipt of positive BRCA1/2 testing. Usually the distress is not clinically significant, however support is desired from health professionals, others who have a BRCA1/2 mutation, and family as decisions are made regarding screening and risk-reducing options. Social relationships are impacted as information is communicated to family members. Limitations of the current state of the science, opportunities to build evidence for the future and implications for nursing practice and education are identified.